Canonical Allele Identifier: CA2615862992

Gene: ATM C11orf65

Linked Data

• gnomAD v4: 11-108353993-ATTGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108353997_108354000del , CM000673.2:g.108353997_108354000del	GRCh38
NC_000011.9:g.108224724_108224727del , CM000673.1:g.108224724_108224727del	GRCh37
NC_000011.8:g.107729934_107729937del	NCBI36
NG_009830.1:g.136166_136169del , LRG_135:g.136166_136169del
NG_054724.1:g.120836_120839del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8786+117_8786+120del (ATM)	ENSP00000388058.2:n.8786+117_8786+120del
ENST00000713593.1:c.*8257+117_*8257+120del (ATM)	ENSP00000518889.1:n.*8257+117_*8257+120del
ENST00000278616.9:c.8786+117_8786+120del (ATM)	ENSP00000278616.4:n.8786+117_8786+120del
ENST00000638786.2:n.1484+117_1484+120del (ATM)
ENST00000682286.1:n.3543+117_3543+120del (ATM)
ENST00000682302.1:n.3204+117_3204+120del (ATM)
ENST00000683174.1:n.10270+117_10270+120del (ATM)
ENST00000683524.1:n.4010+117_4010+120del (ATM)
ENST00000684152.1:n.4202+117_4202+120del (ATM)
ENST00000684180.1:n.1260+117_1260+120del (ATM)
ENST00000684447.1:n.5279+117_5279+120del (ATM)
ENST00000527805.6:c.*3850+117_*3850+120del (ATM)	ENSP00000435747.2:n.*3850+117_*3850+120del
ENST00000675595.1:c.*3921+117_*3921+120del (ATM)	ENSP00000502563.1:n.*3921+117_*3921+120del
ENST00000675843.1:c.8786+117_8786+120del (ATM) MANE Select	ENSP00000501606.1:n.8786+117_8786+120del
ENST00000278616.8:c.8786+117_8786+120del (ATM)	ENSP00000278616.4:n.8786+117_8786+120del
ENST00000452508.6:c.8786+117_8786+120del (ATM)	ENSP00000388058.2:n.8786+117_8786+120del
ENST00000524755.5:c.227-18705_227-18702del (C11orf65)
ENST00000524792.5:n.5001+117_5001+120del (ATM)
ENST00000525178.5:n.274+117_274+120del (ATM)
ENST00000525729.5:c.640+31923_640+31926del (C11orf65)	ENSP00000433395.1:n.640+31923_640+31926del
ENST00000526725.1:n.272-13633_272-13630del (C11orf65)
ENST00000527181.1:n.125+117_125+120del (ATM)
ENST00000527531.5:c.*1196+918_*1196+921del (C11orf65)	ENSP00000431706.1:n.*1196+918_*1196+921del
ENST00000615746.4:c.*1196+918_*1196+921del (C11orf65)	ENSP00000483537.1:n.*1196+918_*1196+921del
NM_000051.3:c.8786+117_8786+120del , LRG_135t1:c.8786+117_8786+120del (ATM)	NP_000042.3:n.8786+117_8786+120del
XM_005271414.3:c.788-18705_788-18702del (C11orf65)	XP_005271471.1:n.788-18705_788-18702del
XM_005271415.3:c.732-18705_732-18702del (C11orf65)	XP_005271472.1:n.732-18705_732-18702del
XM_005271561.3:c.8786+117_8786+120del (ATM)	XP_005271618.2:n.8786+117_8786+120del
XM_005271562.3:c.8786+117_8786+120del (ATM)	XP_005271619.2:n.8786+117_8786+120del
XM_006718843.2:c.8786+117_8786+120del (ATM)	XP_006718906.1:n.8786+117_8786+120del
XM_006718845.1:c.4742+117_4742+120del (ATM)	XP_006718908.1:n.4742+117_4742+120del
XM_011542640.1:c.788-13633_788-13630del (C11orf65)	XP_011540942.1:n.788-13633_788-13630del
XM_011542642.1:c.732-4924_732-4921del (C11orf65)	XP_011540944.1:n.732-4924_732-4921del
XM_011542643.1:c.732-13633_732-13630del (C11orf65)	XP_011540945.1:n.732-13633_732-13630del
XM_011542840.1:c.8786+117_8786+120del (ATM)	XP_011541142.1:n.8786+117_8786+120del
XM_011542841.1:c.8786+117_8786+120del (ATM)	XP_011541143.1:n.8786+117_8786+120del
XM_011542842.1:c.8621+117_8621+120del (ATM)	XP_011541144.1:n.8621+117_8621+120del
XM_011542844.1:c.7742+117_7742+120del (ATM)	XP_011541146.1:n.7742+117_7742+120del
XM_011542845.1:c.7478+117_7478+120del (ATM)	XP_011541147.1:n.7478+117_7478+120del
XM_011542847.1:c.3857+117_3857+120del (ATM)	XP_011541149.1:n.3857+117_3857+120del
NM_001330368.1:c.640+31923_640+31926del (C11orf65)	NP_001317297.1:n.640+31923_640+31926del
NM_001351110.1:c.695-18705_695-18702del (C11orf65)	NP_001338039.1:n.695-18705_695-18702del
NM_001351834.1:c.8786+117_8786+120del (ATM)	NP_001338763.1:n.8786+117_8786+120del
NR_147053.2:n.2301+918_2301+921del (C11orf65)
XM_005271414.4:c.788-18705_788-18702del (C11orf65)	XP_005271471.1:n.788-18705_788-18702del
XM_005271415.4:c.732-18705_732-18702del (C11orf65)	XP_005271472.1:n.732-18705_732-18702del
XM_005271562.5:c.8786+117_8786+120del (ATM)	XP_005271619.2:n.8786+117_8786+120del
XM_006718843.4:c.8786+117_8786+120del (ATM)	XP_006718906.1:n.8786+117_8786+120del
XM_006718845.2:c.4742+117_4742+120del (ATM)	XP_006718908.1:n.4742+117_4742+120del
XM_011542640.2:c.788-13633_788-13630del (C11orf65)	XP_011540942.1:n.788-13633_788-13630del
XM_011542643.2:c.732-13633_732-13630del (C11orf65)	XP_011540945.1:n.732-13633_732-13630del
XM_011542840.3:c.8786+117_8786+120del (ATM)	XP_011541142.1:n.8786+117_8786+120del
XM_011542842.3:c.8621+117_8621+120del (ATM)	XP_011541144.1:n.8621+117_8621+120del
XM_011542844.3:c.7742+117_7742+120del (ATM)	XP_011541146.1:n.7742+117_7742+120del
XM_011542845.2:c.7478+117_7478+120del (ATM)	XP_011541147.1:n.7478+117_7478+120del
XM_017017247.1:c.904-13633_904-13630del (C11orf65)	XP_016872736.1:n.904-13633_904-13630del
XM_017017789.2:c.8786+117_8786+120del (ATM)	XP_016873278.1:n.8786+117_8786+120del
XM_017017790.2:c.8786+117_8786+120del (ATM)	XP_016873279.1:n.8786+117_8786+120del
NM_001330368.2:c.640+31923_640+31926del (C11orf65)	NP_001317297.1:n.640+31923_640+31926del
NM_001351110.2:c.695-18705_695-18702del (C11orf65)	NP_001338039.1:n.695-18705_695-18702del
NM_001351834.2:c.8786+117_8786+120del (ATM)	NP_001338763.1:n.8786+117_8786+120del
NM_000051.4:c.8786+117_8786+120del (ATM) MANE Select	NP_000042.3:n.8786+117_8786+120del
NR_147053.3:n.2299+918_2299+921del (C11orf65)